Thyroid anomalies in Williams syndrome: Investigation of 95 patients

Selicorni, Angelo; Fratoni, A.; Pavesi, Maria Angela; Bottigelli, M.; Arnaboldi, Enrico; Milani, Donatella

doi:10.1002/ajmg.a.31210

Cited by 29 publications

(39 citation statements)

References 10 publications

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“…WBS patients may show typical facial dysmorphisms, heart defects, idiopathic hypercalcemia in infancy, short stature and mental retardation [3]. The presence of thyroid disorders concerning alterations both in function and/or morphology have been reported in these patients [4,5,6]. …”

Section: Introductionmentioning

confidence: 99%

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome

Stagi

Manoni²,

Salti³

et al. 2008

Horm Res Paediatr

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In the Williams-Beuren syndrome (WBS), disorders of the thyroid function and morphology have been reported and programs of thyroid screening and surveillance are recommended. However, the frequency of biochemical thyroid assessment, particularly in the first year of life, is being debated. In this report we describe an infant with WBS and congenital hypothyroidism, due to an important thyroid hypoplasia. The patient, a 1-month-old female, negative at primary neonatal thyroid screening, was referred to our hospital for dyspnea. Thyroid function tests showed a raised TSH (42 mIU/l; normal range 0.5–4 mIU/l) with a low FT₄ concentration (10.21 pmol/l; normal range: 10.29–24.45 pmol/l). Ultrasound examination of the neck showed a significant thyroid hypoplasia, whereas ^99mTc-pertechnetate thyroid scintigraphy evidenced a thyroid gland in normal position, with reduced shape and overall weak fixation. Therefore, treatment with L-thyroxinewas started. Thyroid hypoplasia is a frequent characteristic of WBS and abnormalities of thyroid function are common in patients with this feature. Therefore, the possibility of congenital hypothyroidism should always be taken into consideration too and, even if congenital hypothyroidism neonatal screening is negative, thyroid (morphology and function) evaluation should be regularly assessed when the diagnosis is made and, thereafter, every year in the first years of life.

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Section: Introductionmentioning

confidence: 99%

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome

Stagi

Manoni²,

Salti³

et al. 2008

Horm Res Paediatr

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“…8 Precise defect of hormonal control remains uncertain; disturbances of calcium homeostasis 1 and hypothyrodism are common features. 9 Urologic abnormalities, both structural and functional, are seen with increased frequency in Williamssyndrome. Nephrocalcinosis occurs secondary to hypercalcaemia and renal function may decline with age.…”

Section: Discussionmentioning

confidence: 99%

Anaesthetic management of Williams syndrome

Jannu

2016

Sri Lankan J Anaesthesiol

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“…According to literature reports [4] [28] [29], biochemical hypothyroidism was found in 6/19 (31.6%) patients. Hypercalcemia was more frequent (50%) than the documented incidence in the WBS (15%) [9].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

Ouertani¹,

Chaâbouni²,

Chelly³

et al. 2014

OJGen

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Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 -1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too

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Thyroid anomalies in Williams syndrome: Investigation of 95 patients

Cited by 29 publications

References 10 publications

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome

Anaesthetic management of Williams syndrome

Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

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